Condition: Cardiomyopathy, Dilated, 1AA
rs121434525 in
ACTN2 gene and
Cardiomyopathy, Dilated, 1AA
PMID 14567970 2004 Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
PMID 25224718 2014 Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
PMID 25173926 2014 Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.